NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs) AND Maturity onset diabetes mellitus in young

Germline classification:: Likely pathogenic (1 submission)
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV002463717.1

Allele description [Variation Report for NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)]

NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)

Gene:

HNF1A:HNF1 homeobox A [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

12q24.31

Genomic location:

Preferred name:

NM_000545.8(HNF1A):c.722_725dup (p.Ile242fs)

Other names:

NM_000545.8(HNF1A):c.722_725dup; p.Ile242fs

HGVS:

NC_000012.12:g.120994172_120994175dup
NG_011731.2:g.20427_20430dup
NM_000545.8:c.722_725dupMANE SELECT
NM_001306179.2:c.722_725dup
NP_000536.6:p.Ile242fs
NP_001293108.2:p.Ile242fs
LRG_522:g.20427_20430dup
NC_000012.11:g.121431972_121431973insATGC
NC_000012.11:g.121431975_121431978dup
NM_000545.5:c.722_725dupGCAT

Protein change:

I242fs

Links:

dbSNP: rs1555211975

NCBI 1000 Genomes Browser:

rs1555211975

Molecular consequence:

NM_000545.8:c.722_725dup - frameshift variant - [Sequence Ontology: SO:0001589]
NM_001306179.2:c.722_725dup - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:: Maturity onset diabetes mellitus in young (MODY)
Synonyms:: Mason type diabetes
Identifiers:: MONDO: MONDO:0018911; MedGen: C0342276; Orphanet: 552; OMIM: 606391; Human Phenotype Ontology: HP:0004904

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Viral infections of the leptomeninges and subarachnoid space. TOGAVIRIDAE INFECTIONS; FLAVIVIRIDAE INFECTIONS; RUBELLA; BUNYAVIRIDAE INFECTIONS; ORBIVIRUS infections; PICORNAV...<br/>

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002605017	Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	criteria provided, single submitter (K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)	Likely pathogenic	unknown	research	PubMed (4) [See all records that cite these PMIDs] 31517624, 32395877, 35328643, 35673428 Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002605017

Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic

criteria provided, single submitter

(K & H Uppaluri Personalized Medicine Clinic Variant Classification & Assertion Criteria_Updated V.1)

Likely pathogenic

unknown

research

PubMed (4)
[See all records that cite these PMIDs]

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	research

Citations

PubMed

Novel insights into genetics and clinics of the HNF1A-MODY.

Valkovicova T, Skopkova M, Stanik J, Gasperikova D.

Endocr Regul. 2019 Apr 1;53(2):110-134. doi: 10.2478/enr-2019-0013. Review.

PubMed [citation]

PMID:: 31517624

Altered cortisol metabolism in individuals with HNF1A-MODY.

Juszczak A, Gilligan LC, Hughes BA, Hassan-Smith ZK, McCarthy MI, Arlt W, Tomlinson JW, Owen KR.

Clin Endocrinol (Oxf). 2020 Sep;93(3):269-279. doi: 10.1111/cen.14218. Epub 2020 Jun 5.

PubMed [citation]

PMID:: 32395877

See all PubMed Citations (4)

Details of each submission

From Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic, SCV002605017.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		not provided	not provided	not provided	research	PubMed (4)

Description

Mutations in HNF1A gene can predispose to MODY3. It is associated with both micro and macrovascular complications of diabetes, especially cardiovascular complications. Associated with glucosuria. May respond well to sulfonylureas. However, more evidence is required to confer the association of this particular variant rs1555211975 with MODY3.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	unknown	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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